Linked Data
ClinVar Variation Id:
128210
ClinVar RCV Id:
RCV000116179
RCV000411451
RCV000585995
RCV000765378
RCV000206074
RCV000778506
RCV001356788
RCV001798365
RCV001195025
RCV001778711
dbSNP Id:
rs149331537
ExAC:
17:56787298 T / G
gnomAD v2:
17-56787298-T-G
gnomAD v3:
17-58709937-T-G
gnomAD v4:
17-58709937-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58709937T>G , CM000679.2:g.58709937T>G | GRCh38 |
| NC_000017.10:g.56787298T>G , CM000679.1:g.56787298T>G | GRCh37 |
| NC_000017.9:g.54142297T>G | NCBI36 |
| NG_023199.1:g.22336T>G , LRG_314:g.22336T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.433T>G | ENSP00000464056.2:p.Leu145Val | |
| ENST00000697678.1:n.686T>G | ||
| ENST00000697679.1:n.1858T>G | ||
| ENST00000697680.1:c.*1648T>G | ENSP00000513392.1:n.*1648T>G | |
| ENST00000697681.1:c.*1945T>G | ENSP00000513393.1:n.*1945T>G | |
| ENST00000697683.1:c.*1648T>G | ENSP00000513395.1:n.*1648T>G | |
| ENST00000697684.1:n.844T>G | ||
| ENST00000697685.1:c.*1481T>G | ENSP00000513396.1:n.*1481T>G | |
| ENST00000697686.1:c.433T>G | ENSP00000513397.1:p.Leu145Val | |
| ENST00000697687.1:n.663T>G | ||
| ENST00000697688.1:n.830T>G | ||
| ENST00000697689.1:c.*1320T>G | ENSP00000513398.1:n.*1320T>G | |
| ENST00000697690.1:c.784T>G | ENSP00000513399.1:p.Leu262Val | |
| ENST00000697691.1:c.*756T>G | ENSP00000513400.1:n.*756T>G | |
| ENST00000697692.1:c.*796T>G | ENSP00000513401.1:n.*796T>G | |
| ENST00000697694.1:c.433T>G | ENSP00000513402.1:p.Leu145Val | |
| ENST00000697695.1:n.1391T>G | ||
| ENST00000337432.9:c.784T>G MANE Select | ENSP00000336701.4:p.Leu262Val | |
| ENST00000337432.8:c.784T>G | ENSP00000336701.4:p.Leu262Val | |
| ENST00000413590.5:c.422T>G | ||
| ENST00000475762.5:c.*1487T>G | ENSP00000432421.1:n.*1487T>G | |
| ENST00000482007.5:c.*212T>G | ENSP00000433332.1:n.*212T>G | |
| ENST00000487525.5:c.*357T>G | ENSP00000431637.1:n.*357T>G | |
| ENST00000578151.1:n.119T>G | ||
| ENST00000581221.5:n.299T>G | ||
| ENST00000583539.5:c.784T>G | ENSP00000463121.1:p.Leu262Val | |
| ENST00000584617.5:c.506T>G | ||
| ENST00000584804.1:c.79T>G | ENSP00000463658.1:p.Leu27Val | |
| NM_058216.2:c.784T>G | NP_478123.1:p.Leu262Val | |
| NR_103872.1:n.688T>G | ||
| XM_006722001.2:c.784T>G | XP_006722064.1:p.Leu262Val | |
| XM_006722002.2:c.784T>G | XP_006722065.1:p.Leu262Val | |
| XM_006722004.2:c.433T>G | XP_006722067.1:p.Leu145Val | |
| XM_006722005.2:c.433T>G | XP_006722068.1:p.Leu145Val | |
| XM_011525092.1:c.433T>G | XP_011523394.1:p.Leu145Val | |
| XM_011525093.1:c.433T>G | XP_011523395.1:p.Leu145Val | |
| XM_011525094.1:c.433T>G | XP_011523396.1:p.Leu145Val | |
| XR_934513.1:n.1002T>G | ||
| XR_934514.1:n.1002T>G | ||
| XM_006722001.4:c.784T>G | XP_006722064.1:p.Leu262Val | |
| XM_006722002.4:c.784T>G | XP_006722065.1:p.Leu262Val | |
| XM_006722004.3:c.433T>G | XP_006722067.1:p.Leu145Val | |
| XM_006722005.3:c.433T>G | XP_006722068.1:p.Leu145Val | |
| XM_011525092.2:c.433T>G | XP_011523394.1:p.Leu145Val | |
| XM_011525093.2:c.433T>G | XP_011523395.1:p.Leu145Val | |
| XM_011525094.2:c.433T>G | XP_011523396.1:p.Leu145Val | |
| XM_017024914.1:c.433T>G | XP_016880403.1:p.Leu145Val | |
| XM_017024915.1:c.433T>G | XP_016880404.1:p.Leu145Val | |
| XM_017024916.1:c.433T>G | XP_016880405.1:p.Leu145Val | |
| XM_017024917.1:c.433T>G | XP_016880406.1:p.Leu145Val | |
| XM_017024918.2:c.433T>G | XP_016880407.1:p.Leu145Val | |
| XM_017024919.1:c.433T>G | XP_016880408.1:p.Leu145Val | |
| XR_934513.3:n.1433T>G | ||
| XR_934514.3:n.1433T>G | ||
| NM_058216.3:c.784T>G MANE Select | NP_478123.1:p.Leu262Val | |
| NR_103872.2:n.659T>G |